Guo J, Ren D, Guo ZJ, Yu J, Liu F, Zhao RX, Wang Y. Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report . World J Clin Cases 2021; 9(30): 9276-9284 [PMID: 34786414 DOI: 10.12998/wjcc.v9.i30.9276]
Corresponding Author of This Article
Yu Wang, MD, Doctor, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 12 Changjia Alley, Jingzhong Street, Mianyang 621000, Sichuan Province, China. sidalin198521@126.com
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 26, 2021; 9(30): 9276-9284 Published online Oct 26, 2021. doi: 10.12998/wjcc.v9.i30.9276
Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report
Jun Guo, Dan Ren, Zhong-Jie Guo, Jing Yu, Fu Liu, Rong-Xiang Zhao, Yu Wang
Jun Guo, Dan Ren, Jing Yu, Fu Liu, Rong-Xiang Zhao, Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Zhong-Jie Guo, Department of Medical Image, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Yu Wang, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, Sichuan Province, China
Author contributions: Guo J and Ren D carried out the treatment and management; Guo J, Ren D, and Liu F carried out the follow-up of the patient; Guo J, Ren D, and Wang Y carried out the data collection; Guo J wrote the manuscript; Guo ZJ observed and analysed the radiographic images; Yu J made process on key issues in the treatment; Zhao RX guide the professional knowledge and decision; and Wang Y conceived, reviewed, and revised the manuscript, reviewed the research progress, supervised the schedule, and coordinated the study.
Informed consent statement: The legal guardian of the patient provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All authors declare no conflict of interest for this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu Wang, MD, Doctor, Department of Pharmacy, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 12 Changjia Alley, Jingzhong Street, Mianyang 621000, Sichuan Province, China. sidalin198521@126.com
Received: June 3, 2021 Peer-review started: June 3, 2021 First decision: June 17, 2021 Revised: April 15, 2021 Accepted: August 23, 2021 Article in press: August 23, 2021 Published online: October 26, 2021 Processing time: 140 Days and 1.9 Hours
Abstract
BACKGROUND
β-ketothiolase deficiency (β-KTD) is an inherited disease, and insufficient attention has been paid to imageology due to its lower morbidity. Therefore, few lesions outside the basal ganglia have been found before, and the persistent pathological changes have rarely been reported.
CASE SUMMARY
A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior. She was initially diagnosed with severe brain injury, central respiratory failure, metabolic acidosis complicated with respiratory alkalosis, hyper-IgE, etc. With further examination, a definite diagnosis of β-KTD was made. Symptomatic treatment was adopted. Ten days later, the dyspnea was improved evidently and the ventilator was removed, but there were still obvious abnormalities on magnetic resonance imaging (MRI). The lesions mainly invaded the corpus striatum but were not limited to the basal ganglia. Then, the patient’s disease improved and discharged approximately 1 mo later, and the abnormal lesions on MRI had partially improved. However, for about 1 year, the residual irreversible lesions were observed on MRI, the mental and physical development of the patient was obviously regressive, and extra rehabilitation training was needed.
CONCLUSION
The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in some β-KTD patients. In addition to biochemical tests, genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosing β-KTD but also to partially evaluating the short- and long-term outcomes. Moreover, more attention should be paid to the two mutations (c.478C>G; c.951C>T) that may be associated with severe β-KTD.
Core Tip: In our report, abnormal signals with a nodular shape were not only found in the bilateral basal ganglia (the lesions were mainly located in the corpus striatum), but they were also found in the bilateral cerebral peduncle and mesencephalon. These severe and extensive lesions caused the irreversible damage to the basal ganglia finally. It is suggested that the range of lesions in some patients may be more extensive than previously thought. In addition, two unusual mutations (c.478C>G; c.951C>T) may associate with this disease. As the clinical symptoms at the first onset were life-threatening with the extensive lesions, it is imperative that clinicians take notice when these two mutations appear in gene sequences.
